Canonical Allele Identifier: CA346133856

Gene: OTOF

Linked Data

• MyVariant Identifiers: chr2:g.26686873T>G (hg19) ; chr2:g.26464005T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26464005T>G , CM000664.2:g.26464005T>G	GRCh38
NC_000002.11:g.26686873T>G , CM000664.1:g.26686873T>G	GRCh37
NC_000002.10:g.26540377T>G	NCBI36
NG_009937.1:g.99694A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.5062A>C MANE Select	ENSP00000272371.2:p.Thr1688Pro
ENST00000339598.8:c.2761A>C MANE Plus Clinical	ENSP00000344521.3:p.Thr921Pro
ENST00000402415.8:c.2821A>C	ENSP00000383906.4:p.Thr941Pro
ENST00000272371.6:c.5062A>C	ENSP00000272371.2:p.Thr1688Pro
ENST00000338581.10:c.2761A>C	ENSP00000345137.6:p.Thr921Pro
ENST00000339598.7:c.2761A>C	ENSP00000344521.3:p.Thr921Pro
ENST00000402415.7:c.2992A>C	ENSP00000383906.3:p.Thr998Pro
ENST00000403946.7:c.5062A>C	ENSP00000385255.3:p.Thr1688Pro
ENST00000464574.1:n.811A>C
NM_001287489.1:c.5062A>C	NP_001274418.1:p.Thr1688Pro
NM_004802.3:c.2761A>C	NP_004793.2:p.Thr921Pro
NM_194248.2:c.5062A>C	NP_919224.1:p.Thr1688Pro
NM_194322.2:c.2992A>C	NP_919303.1:p.Thr998Pro
NM_194323.2:c.2761A>C	NP_919304.1:p.Thr921Pro
XM_005264644.2:c.5047A>C	XP_005264701.1:p.Thr1683Pro
XM_011533185.1:c.5107A>C	XP_011531487.1:p.Thr1703Pro
XM_017005338.1:c.5002A>C	XP_016860827.1:p.Thr1668Pro
NM_001287489.2:c.5062A>C	NP_001274418.1:p.Thr1688Pro
NM_004802.4:c.2761A>C	NP_004793.2:p.Thr921Pro
NM_194248.3:c.5062A>C MANE Select	NP_919224.1:p.Thr1688Pro
NM_194322.3:c.2992A>C	NP_919303.1:p.Thr998Pro
NM_194323.3:c.2761A>C MANE Plus Clinical	NP_919304.1:p.Thr921Pro